Canonical Allele Identifier: CA487366689

Gene: GALC

Linked Data

• ClinVar Variation Id: 1152358
• ClinVar RCV Id: RCV001493659
• dbSNP Id: rs375382346
• gnomAD v2: 14-88454805-G-T
• gnomAD v4: 14-87988461-G-T
• MyVariant Identifiers: chr14:g.88454805G>T (hg19) ; chr14:g.87988461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988461G>T , CM000676.2:g.87988461G>T	GRCh38
NC_000014.8:g.88454805G>T , CM000676.1:g.88454805G>T	GRCh37
NC_000014.7:g.87524558G>T	NCBI36
NG_011853.2:g.10103C>A
NG_011853.3:g.10103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.258C>A MANE Select	ENSP00000261304.2:p.Leu86=
ENST00000261304.6:c.258C>A	ENSP00000261304.2:p.Leu86=
ENST00000393568.8:c.196-254C>A	ENSP00000377198.4:n.196-254C>A
ENST00000393569.6:c.180C>A	ENSP00000377199.2:p.Leu60=
ENST00000474294.6:n.248C>A
ENST00000544807.6:c.90C>A	ENSP00000437513.2:p.Leu30=
ENST00000554372.5:c.258C>A	ENSP00000451884.1:p.Leu86=
ENST00000554916.5:n.137C>A
ENST00000555956.1:n.63C>A
ENST00000556879.5:c.318C>A	ENSP00000452208.1:n.318C>A
ENST00000557316.5:c.258C>A	ENSP00000452314.1:p.Leu86=
ENST00000622264.4:c.248C>A
NM_000153.3:c.258C>A	NP_000144.2:p.Leu86=
NM_001201401.1:c.196-254C>A	NP_001188330.1:n.196-254C>A
NM_001201402.1:c.180C>A	NP_001188331.1:p.Leu60=
XM_011536618.1:c.90C>A	XP_011534920.1:p.Leu30=
XM_011536618.2:c.90C>A	XP_011534920.1:p.Leu30=
NM_000153.4:c.258C>A MANE Select	NP_000144.2:p.Leu86=
NM_001201401.2:c.196-254C>A	NP_001188330.1:n.196-254C>A
NM_001201402.2:c.180C>A	NP_001188331.1:p.Leu60=